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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-87385337-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=87385337&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 87385337,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002890.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2795T>C",
"hgvs_p": "p.Leu932Ser",
"transcript": "NM_002890.3",
"protein_id": "NP_002881.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3364,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": "ENST00000274376.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002890.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2795T>C",
"hgvs_p": "p.Leu932Ser",
"transcript": "ENST00000274376.11",
"protein_id": "ENSP00000274376.6",
"transcript_support_level": 1,
"aa_start": 932,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3364,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": "NM_002890.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274376.11"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2264T>C",
"hgvs_p": "p.Leu755Ser",
"transcript": "ENST00000456692.6",
"protein_id": "ENSP00000411221.2",
"transcript_support_level": 1,
"aa_start": 755,
"aa_end": null,
"aa_length": 870,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456692.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "n.*1320T>C",
"hgvs_p": null,
"transcript": "ENST00000515800.6",
"protein_id": "ENSP00000423395.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515800.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "n.*1320T>C",
"hgvs_p": null,
"transcript": "ENST00000515800.6",
"protein_id": "ENSP00000423395.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515800.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2813T>C",
"hgvs_p": "p.Leu938Ser",
"transcript": "ENST00000888490.1",
"protein_id": "ENSP00000558549.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888490.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2792T>C",
"hgvs_p": "p.Leu931Ser",
"transcript": "ENST00000888488.1",
"protein_id": "ENSP00000558547.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 3466,
"cdna_end": null,
"cdna_length": 4848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888488.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2708T>C",
"hgvs_p": "p.Leu903Ser",
"transcript": "ENST00000888489.1",
"protein_id": "ENSP00000558548.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888489.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2297T>C",
"hgvs_p": "p.Leu766Ser",
"transcript": "ENST00000506290.1",
"protein_id": "ENSP00000420905.1",
"transcript_support_level": 2,
"aa_start": 766,
"aa_end": null,
"aa_length": 881,
"cds_start": 2297,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506290.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2294T>C",
"hgvs_p": "p.Leu765Ser",
"transcript": "ENST00000512763.5",
"protein_id": "ENSP00000422008.1",
"transcript_support_level": 2,
"aa_start": 765,
"aa_end": null,
"aa_length": 880,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512763.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2264T>C",
"hgvs_p": "p.Leu755Ser",
"transcript": "NM_022650.3",
"protein_id": "NP_072179.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 870,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022650.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"hgvs_c": "c.2234T>C",
"hgvs_p": "p.Leu745Ser",
"transcript": "ENST00000962098.1",
"protein_id": "ENSP00000632157.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 860,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "c.933+9707A>G",
"hgvs_p": null,
"transcript": "NM_001364075.2",
"protein_id": "NP_001351004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364075.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "c.*42-8819A>G",
"hgvs_p": null,
"transcript": "ENST00000888806.1",
"protein_id": "ENSP00000558865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888806.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "c.*41+9068A>G",
"hgvs_p": null,
"transcript": "ENST00000962232.1",
"protein_id": "ENSP00000632291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "c.*41+9068A>G",
"hgvs_p": null,
"transcript": "ENST00000962233.1",
"protein_id": "ENSP00000632292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.*90+7433A>G",
"hgvs_p": null,
"transcript": "ENST00000645953.1",
"protein_id": "ENSP00000494460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645953.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.*90+7433A>G",
"hgvs_p": null,
"transcript": "ENST00000646883.1",
"protein_id": "ENSP00000493789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.1447+7433A>G",
"hgvs_p": null,
"transcript": "NR_157068.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157068.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.1040+7433A>G",
"hgvs_p": null,
"transcript": "NR_157069.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157069.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCNH",
"gene_hgnc_id": 1594,
"hgvs_c": "n.1204+7433A>G",
"hgvs_p": null,
"transcript": "NR_157070.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157070.2"
}
],
"gene_symbol": "RASA1",
"gene_hgnc_id": 9871,
"dbsnp": "rs1554050426",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9650000333786011,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.77,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.756,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002890.3",
"gene_symbol": "RASA1",
"hgnc_id": 9871,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2795T>C",
"hgvs_p": "p.Leu932Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001364075.2",
"gene_symbol": "CCNH",
"hgnc_id": 1594,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.933+9707A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Capillary malformation-arteriovenous malformation syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Capillary malformation-arteriovenous malformation syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}